Overview
Our laboratory focuses on the control of breathing and pulmonary mechanics in murine models of several genetic diseases. These genetic diseases include Duchenne Muscular Dystrophy, Pompe Disease, ALS, and Spino-cerebellar ataxia Type 7. We also investigate the ability of gene therapy and neuromodulation to treat respiratory insufficiency in neuromuscular diseases. As a clinician-scientist, my goal is to bring therapy from the bench to the bedside and enhance our research at the bench through observations at the bedside.
Our clinical research focus is on the impact of novel therapies on respiratory function in Duchenne Muscular Dystrophy and Pompe Disease. We study the impact of recent therapies on breathing in these disorders and the impact of social determinants of health on clinical outcome measures.
Our clinical research focus is on the impact of novel therapies on respiratory function in Duchenne Muscular Dystrophy and Pompe Disease. We study the impact of recent therapies on breathing in these disorders and the impact of social determinants of health on clinical outcome measures.
Current Appointments & Affiliations
Professor of Pediatrics
·
2025 - Present
Pediatrics, Pulmonary and Sleep Medicine,
Pediatrics
Chief, Division of Pulmonary and Sleep Medicine
·
2021 - Present
Pediatrics, Pulmonary and Sleep Medicine,
Pediatrics
Associate Professor in Neurobiology
·
2020 - Present
Neurobiology,
Basic Science Departments
Associate Professor in Cell Biology
·
2020 - Present
Cell Biology,
Basic Science Departments
Recent Publications
Consensus recommendations and considerations for the delivery and monitoring of gene therapy in patients with Duchenne muscular dystrophy.
Journal Article Neuromuscul Disord · September 2025 Gene transfer therapy represents a major advancement in the treatment of patients with Duchenne muscular dystrophy (DMD). As clinical use expands, there is an urgent need for standardized, evidence and practice-informed guidelines to ensure safe and equita ... Full text Link to item CiteDecarbonization Potential of Alternative Fuels in Container Shipping: A Case Study of the EVER ALOT Vessel
Journal Article Environments Mdpi · September 1, 2025 Environmental emissions from the maritime sector, including CO2, NOx, and SOx, contribute significantly to global air pollution and climate change. The International Maritime Organization (IMO) has set a target to reduce gr ... Full text CiteNeuromuscular junction transcriptome analysis of spinal and bulbar muscular atrophy mice implicates sarcomere gene expression and calcium flux dysregulation in disease pathogenesis.
Journal Article Hum Mol Genet · July 3, 2025 X-linked Spinal and Bulbar Muscular Atrophy (SBMA) is a rare, late-onset neuromuscular disease caused by a CAG repeat expansion mutation in the androgen receptor (AR) gene. SBMA is characterized by progressive muscle atrophy of both neurogenic and myopathi ... Full text Link to item CiteRecent Grants
A Phase 3, Multicenter, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Safety and Efficacy of PF-06939926 for the Treatment of Duchenne Muscular Dystrophy (Start up)
Clinical TrialPrincipal Investigator · Awarded by Pfizer, Inc. · 2025 - 2040A Phase 3, Multinational, Long-Term Follow-Up Study to Evaluate Safety and Efficacy in Subjects Who Have Previously Received SRP-9001 in a Clinical study
Clinical TrialPrincipal Investigator · Awarded by Sarepta Therapeutics, Inc. · 2024 - 2031Unified Program for Therapeutics in Children
Inst. Training Prgm or CMEPreceptor · Awarded by National Institutes of Health · 2025 - 2030View All Grants
Education, Training & Certifications
Queens University Belfast (United Kingdom) ·
2001
M.B.B.S.